Skip to main content

Address

Panerių g. 246
48454 Kaunas
Lithuania

Opening hours

  • Mon – Fri
    9 :00 – 17 00
  • Sat
    Closed    
  • Sun
    Closed   
Dog DNA testing illustration

Globoid Cell Leukodystrophy (GCL, Krabbes disease) – Terrier Type

Code: H737

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
The add to cart button will appear once you select the values above

Short description

Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis.

General information

Krabbe Disease, also known as Globoid Cell Leukodystrophy or GALC Deficiency, is a severe metabolic disorder that causes neuromuscular issues such as weakness and paralysis. It is caused by a recessive mutation to the gene GALC. The variant analysed in this test occurs in the Cairn Terrier and West Highland White Terrier. A closely related variant has been observed in the Irish Setter.

Specifications

Breeds

Cairn Terrier, West Highland White Terrier
Gene

GALC
Chromosome

8
Mutation

c.473A>C
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Affected puppies present at approximately 4 to 6 weeks of age with tremors, limb weakness, ataxia (loss of coordination), muscle atrophy and paralysis. The disease is progressive, and by the age of 9 months, the symptoms are likely to be severe enough to warrant euthanasia on humane grounds.

References

Pubmed ID: 8661004

Year published: 1996

Omia ID: 578

Omia variant ID:

Turnaround information

  • 15 working days